SEMA3E mutation in a patient with CHARGE syndrome.

Journal of medical genetics

Volumn 41, Issue 7, 2004, Pages

  Lalani, S R ^a   Safiullah, A M ^a   Molinari, L M ^a   Fernbach, S D ^a   Martin, D M ^a   Belmont, J W ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

SEMA3E PROTEIN, HUMAN; SEMAPHORIN;

CHOANA ATRESIA; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CLINICAL TRIAL; COLOBOMA; CONGENITAL HEART MALFORMATION; GENE TRANSLOCATION; GENETICS; HEARING IMPAIRMENT; HUMAN; LETTER; MALE; METHODOLOGY; MISSENSE MUTATION; MULTICENTER STUDY; MULTIPLE MALFORMATION SYNDROME; MUTATION; SYNDROME;

ABNORMALITIES, MULTIPLE; CHOANAL ATRESIA; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; COLOBOMA; DEAFNESS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; SEMAPHORINS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 16544384819     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.017640     Document Type: Letter

References (0)